Thursday, August 21, 2014

Neurosurgery Appt., alot going on, few immediate solutions

Earlier today I saw Dr.Bragg which I guess went ok. I say this because we have ideas but no for sure plan which is hard when you feel bad so much of the time; not having a concrete plan of action and timeline for things to occur in place is difficult to wrap your head around. It is much easier to be positive (hopeful) for better days when you know there is a sure plan and timeline.
There are so many issues going on so it's often what do we treat 1st? I said to Dr.Bragg today or really I apologized that so much of the time as in this case many of my Providers will defer back to her and her expertise how to deal with an issue. She commented something along the lines "No worries it's what I do or know" (not those exact words) and that she was happy to manage the various issues going on and not just help with the headaches.

I am grateful she does offer to manage the overall neurologic picture/imaging and seems ok when others of my drs (in this case PMR, PT, Pain Mngmt) defer to what she thinks of an issue/issues.
Right now b/c I swear it's never just one issue symptoms overall include the low back/L leg issues (leg spasms/intermittent discomfort), Intermittent episodes lightheaded, intermittent H/A's, vision which goes along w headaches. Nausea periodically and waking up frequently at night from low back/leg.
I don't know if I am wrong or if Dr.Bragg is just trying to figure out a better solution given we've had so many shunt issues but I admittedly feel discouraged and a little frustrated (not at her really) about spending so much of most days feeling crappy and yet there is no easy (easier?) answer what to do.

I think she is pretty good about trying her best but I feel like even she might be unsure what is the best solution though I could be wrong about this. Maybe I am just so worn out from it all that I feel discouraged and thus think she feels so - hopefully she isn't and instead is just trying to find better solutions.
I completely forgot to ask if she'd talked to her colleague about the bone thinning, which is not something I am eager to jump in to anyways but I am a little curious what that dr thinks ie would she think it would help and would it be as big a procedure/surgery as I feel like it might be? At this pt we've kind of put that as our last ditch option I think but i'll still try to find out if Dr.Bragg talked to this other dr at all.

As far as the Intrathecal Aldurazyme which was something i'd asked her about at the last appt (if it might be an option) about a month ago it sounded like she had gotten a little info about how setting ↑ IRB's works at UW.
She hadn't yet talked to Dr.Dickson (kind of a bummer but given I hadn't heard anything I kind of wondered and I understand she is busy) but I think from what Dr.Bragg said today she was going to talk to their Research Coord. regarding this person reaching out to Dr.Dickson (potentially try IT-Aldurazyme in to shunt/brain) for info. The Research Coord. would then in-turn be the one to try and get IRB approval.
As far as H/A's her Codman Rep also was on the fence if we should try adding a anti-siphon valve to the VP Shunt. This valve would prevent over draining but in-turn would mean less CSF pressure released which we know isn't ideal. We've kind of left that as a non-decision at this pt.
Regarding low back/leg on-going issues I am a little confused on this (but honestly one of those things I need to mull over before having questions) as previously she'd mentioned she thought it might be due to the TPL Shunt catheter.
Today her thoughts seemed more towards lumbar/Sacral disc bulging/disc changes.
Before we did anything drastic there she'd like to see if injections might pin pt if the lumbar/sacral area is in fact the cause. If the injections helped I guess then she'd consider doing something more in-depth like decompressing the area? This again one of those things that is a little confusing and a lot to process.
I'll talk to my Pain Mngnt dr about this as she is likely who would do it if she agrees (Dr.B may decide she'd want to talk to Dr.Bragg). Coumadin weights in to that ie if we did injection(s), but could be managed fairly easily and is out-pt.
I personally am not a big believer in efficacy of facet injections but maybe and if I understood it all correctly Dr.Bragg thought this on-going symptoms/changes in symptoms could be due to the previous LP Shunt and the many previous Lumbar surgeries. (We've had issues in the past w nerve roots from several levels becoming scarred together and have done decompressions).
Today's appt was definitely a lot in a semi-short period (though not rushed, Dr.Bragg is good about explaining her thoughts). Really it's more that we have no clear road (plan) which is what makes it difficult.
Atleast when you know there is potential relief in sight you have hope.
Honestly I am just praying for something soon, I don't (as I'm sure I've said a million times before) want to keep asking Dr.Bragg for help but I would also give so much to feel better.

I see Optometry next week to see if vision (glasses) prescription has changed, it seems like it has and seems like this secondary to the intermittent headaches has gotten worse. I really, really like to read and thankfully there are large print books but even many times I end up just putting whatever I am reading down as the print just begins to swim-not in an I am just tired way but just b/c vision gets so fuzzy.
I am going away tmrw, staying overnight which should atleast be fun. Ever since i've been a kid we've been going to Bay Beach which is a small Amusement Park near Green Bay. These days we take some of the nieces and nephews - it is beautiful, on the shore of Lake Michigan! Kind of like being a kid in a grown ups body for a day! =)
This year we are staying near Bay Beach over night. I so, sooo badly just want to feel good all day and night and just want my body to not hurt, to just be able to stand in lines and sleep normally!?!
Will post pics sometime soon.

If you believe in prayer, please pray Dr.Bragg and I are able to come up w a good solution soon to one or more of these issues. I feel a little CrAzY given it's always something! =/

Written earlier in the wk
I've been thinking alot lately but especially this past week about my care, on-going issues and honestly feeling some stress about people (who I really don't know) in the MPS 'community' that feel it necessary to spread untrue crap about me. Why I don't know but I have a hard time not letting it get to me. I've definitely been spending less time on fb and not sharing much on there.
I've always used fb mainly as a source to share my own experiences w MPS and to learn from others but lately I often wonder about any of this and can't help but feel fb just causes a lot of unnecessary drama and honestly pain.
These last few days have not been the best (the usual nights and mornings to mid-afternoon) being the worse and then starting to feel somewhat better by late afternoon and only to start again by night. I've not felt really great and not entirely sure what it is from. I've been having episodes of what I guess is lightheadedness (maybe related to reading), having the headaches worse, feel really tired the past couple days (Monday and Tues being the worst despite sleeping near 12 hrs Mon. night) and probably doesn't help (maybe is influenced by?) that INR has been high/low/high though I only seem to feel really tired when it is high.
I don't think the headaches are related to INR and instead in all honesty think it is something shunt related as it improves a little the longer I am up though never going away yesterday or Tues. Today, Weds has atleast been a little better.
It seemed as if symptoms progressively got worse Monday, (the headaches, nausea) which Monday night I finally just took a 1/4 dose of the valium after trying Zofran with no luck and went to bed. The lightheaded feeling comes and goes and seems only positional in all actuality very similar to past specific shunt issues.
Either way even though I pray Dr.Bragg can help sooner I will always be grateful to her for the help and time she has given over the past years. I've definitely learned those Providers who want to or try to help and have learned who will and won't help in your care and who will and who won't necessarily listen.
It seems hard to believe but Tues night we had our first Sunday School meeting of the year - this starts Sept 7th. I'll con't to teach grades 3 and 4.

Tuesday, August 12, 2014

Exciting news for PTC's 'Ataluran', PMR/other news

Additional indication: Based on an evaluation process and in discussion with outside experts, PTC has selected mucopolysaccharidosis type I (MPS I) as the next indication to pursue for Translarna. It is PTC's goal to initiate a Phase 2 proof-of-concept study for MPS I in the second half of 2014.
It is estimated that 60-80% of MPS I patients have their disease as a result of a nonsense mutation.
There is no cure for MPS I and enzyme replacement therapies do not sufficiently address the central nervous system, skeletal or cardiac symptoms associated with the disorder. Prognosis of patients with MPS I is poor and there is an urgent need for the development of new treatments targeting the underlying cause of MPS

At PMR today I saw my docs partner (she is on maternity leave) and asked him as we where talking pre-botox if he thought botox might help the low spine/hamstring nerve like symptoms.
He after doing a quick assessment did not feel it would and also, like my PT has concerns it is caused by a spine nerve being irritated. See below about last weeks PT appt. but I guess this means I should call Dr.Bragg.
I see my Pain Mngmt dr on Thurs and perhaps going to 1st see what she thinks, she has been on my 'Team' since pre-any of the spine surgeries so she may have a good vantage pt. I suspect I know what she'll also say but still I am in no hurry to ask Dr.Bragg for help on still another (potential) TPL Shunt issue!
Earlier last week at Physical Therapy, (which I've been doing on and off for years but in this case since March or April) my PT had some concerns with the sciatic nerve (we think) related symptoms occurring down the back of my L buttocks, L back of leg (hamstring/related muscle groups).
Because the symptoms have not improved at all and seem only to be getting worse-occurring more frequently he was concerned it may be a spine nerve issue, given my history. Beucase the symptoms have begun occurring at night I wake up often having to move/get up/stretch. His concern is whenever I've had other issues w muscles/nerve we've atleast been able to decrease symptoms and everything will at least improve. This time, going on for the past couple months and symptoms only worsening, with no response from our efforts in PT (again soooo unusual) it is often miserable when symptoms occur.
We know it is full spine MRI's looked ok minus more typical MPS spine issues (narrowing for instance) that it isn't actual compression or something like a herniated disc but Dr.Bragg when reviewing the imaged had mentioned the TPL Shunt catheter, sitting in the spinal canal around T-10 (I believe) was closer to one side of the canal than they prefer and she thought it was possible this could be the cause of the symptoms.
Tom, mentioned at the end of that PT Appt how at the end of each session he is able to make a small amount of improvement in this particular muscle group but then each wk I'd come back he could clearly tell the muscles where back to if not worse then the wk before, as if he'd never done anything.
Per his experience this is not normal and he asked if I'd had MRIs recently (I have). Being Tom is incredibly conservative and not a big believer in a lot of the interventions/tests that are done for some pts (he seems to get the need for more in MPS) I was a little surprised by his concern.
He asked that I talk to Dr.Bragg to make sure she is aware the symptoms are only worsening and to make sure it is not the TPL Shunt causing these nerve irritation symptoms.

I've not heard what's going on regarding if she was able to talk to Dr.Dickson about potentially setting up to do IT (if it is possible it will take time) or if she was able to talk to the Plastic Surgeon about the other bone thinning she was interested in pursuing (I am more than hesitant about that one but willing to get information on it).
I guess really I need to call her Nurse or Secretary about all of these things or probably just make an appt.

Otherwise things have been really buys but not altogether in a bad way. INR for the mechanical heart valve has swung high and low repeatedly so we con't to adjust that - last wk Monday it was 5.0. Thurs after a slight dose adjustment it was 2.89 and I re-test again either Thurs or Mon (my choice, they wanted Thurs but said I could do Monday since I am at that hospital every Mon.).

Last week, early in the week I had lunch w the WI drug rep from Genzyme (which was nice) and she + the whole team (Carol, Karen, Amy) where in-turn in WI Weds-Sat.
They where hosting a Fabry mtng in Milw. Fri night and invited me to attend "since we don't have MPS I mtngs".
I knew many of the families at the dinner though not their significant others and as well was a really lovely surprise when one of my former and 1st drs. from UofMn was the invited speaker! Our Genzyme Team must have told her I was also attending b/c I am not sure who was happier when I walked in - it was soooo freakin lovely to see her (she is in private practice in Mn now but had left for some yrs to practice at Denver Children's)!
We honest to goodness spent most of the night catching up, talking and just talking about all of the changed in my 'Team', my care and overall the MPS community. She is so fantastically smart but exceptionally down to earth! We've exchanged contact info and more than likely now that she is back in the Midwest we'll run in to each other again from time-to-time.
On a kind of cool note each of the 3 Genzyme reps had asked for one of the Aldurazyme 'flip off' bracelets which I sent to them and where wearing them + KB also liked + asked for one! Very cool the little ways we can raise awareness as many people ask about my bracelet!

On a completely un-related note our family (my parents, myself, my sister and her family) all go to an amusement park near Green Bay each year along w my brother's son and are doing this next week.
Bay Beach is like a mix of a giant (but uber cheap) carnival, near scenic Lake Michigan view, giant (REALLY GIANT) slide you ride down on potato sacks. There is a train ride that goes around the park, an old wooden roller coaster from Elvis Presley/down south, a pool and this year a new ride was being added similar to some that are at carnivals on top of many, many, MANY other awesome rides big and small!
It's such a perfect place for any age! I'll be sure and post pics in one of the future blogs. =)
Thanks for stopping by,